Incidental Mutation 'R6319:Tmem200a'
ID |
509347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200a
|
Ensembl Gene |
ENSMUSG00000049420 |
Gene Name |
transmembrane protein 200A |
Synonyms |
C030003D03Rik |
MMRRC Submission |
044474-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6319 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
25867080-25955713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25869393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 292
(V292A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066049]
[ENSMUST00000218232]
[ENSMUST00000219338]
[ENSMUST00000219651]
[ENSMUST00000219872]
|
AlphaFold |
Q8C817 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066049
AA Change: V292A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064080 Gene: ENSMUSG00000049420 AA Change: V292A
Domain | Start | End | E-Value | Type |
Pfam:DUF2371
|
16 |
161 |
8.9e-62 |
PFAM |
low complexity region
|
262 |
279 |
N/A |
INTRINSIC |
low complexity region
|
387 |
401 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217910
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218232
AA Change: V292A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219651
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219872
|
Meta Mutation Damage Score |
0.3648 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
C |
6: 58,651,723 (GRCm39) |
S372P |
probably benign |
Het |
Adam34 |
A |
G |
8: 44,104,952 (GRCm39) |
I231T |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,307,366 (GRCm39) |
H840L |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,750,978 (GRCm39) |
T470A |
probably benign |
Het |
Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
B430306N03Rik |
A |
T |
17: 48,623,771 (GRCm39) |
Q24L |
probably damaging |
Het |
Bmp6 |
A |
T |
13: 38,530,390 (GRCm39) |
H161L |
probably benign |
Het |
Cdca8 |
C |
A |
4: 124,815,087 (GRCm39) |
D177Y |
possibly damaging |
Het |
Col14a1 |
A |
G |
15: 55,379,565 (GRCm39) |
T1693A |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,481,167 (GRCm39) |
S1230P |
probably damaging |
Het |
Dcaf13 |
A |
G |
15: 39,007,067 (GRCm39) |
T334A |
probably benign |
Het |
Dhx32 |
A |
C |
7: 133,338,955 (GRCm39) |
V360G |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 49,985,367 (GRCm39) |
T205A |
probably benign |
Het |
Dxo |
A |
G |
17: 35,057,367 (GRCm39) |
E253G |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,523,929 (GRCm39) |
Y747C |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,601,389 (GRCm39) |
E238G |
possibly damaging |
Het |
Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
Grik4 |
A |
T |
9: 42,477,632 (GRCm39) |
M518K |
probably damaging |
Het |
Igf2r |
T |
A |
17: 12,933,000 (GRCm39) |
S841C |
probably damaging |
Het |
Itfg1 |
G |
T |
8: 86,567,258 (GRCm39) |
T37K |
probably damaging |
Het |
Kcnn4 |
T |
A |
7: 24,081,165 (GRCm39) |
M301K |
possibly damaging |
Het |
Kel |
C |
A |
6: 41,679,381 (GRCm39) |
E127D |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,310,666 (GRCm39) |
Y569C |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,518,798 (GRCm39) |
V89D |
possibly damaging |
Het |
Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
Mnd1 |
A |
G |
3: 84,049,071 (GRCm39) |
S2P |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,053,023 (GRCm39) |
|
probably null |
Het |
Or51af1 |
T |
C |
7: 103,141,932 (GRCm39) |
E51G |
possibly damaging |
Het |
Or5h23 |
A |
G |
16: 58,906,384 (GRCm39) |
I154T |
probably benign |
Het |
Or8g17 |
A |
G |
9: 38,930,810 (GRCm39) |
V9A |
probably damaging |
Het |
Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
Plekhm3 |
A |
T |
1: 64,961,093 (GRCm39) |
Y388N |
probably benign |
Het |
Prr18 |
G |
T |
17: 8,560,143 (GRCm39) |
V100F |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,634,890 (GRCm39) |
Y44C |
probably damaging |
Het |
Smg6 |
T |
C |
11: 75,047,048 (GRCm39) |
L1247P |
probably damaging |
Het |
Spata31e2 |
G |
A |
1: 26,724,482 (GRCm39) |
R233C |
probably benign |
Het |
Tdh |
T |
C |
14: 63,733,186 (GRCm39) |
T137A |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,803,758 (GRCm39) |
V1116A |
probably benign |
Het |
Ubr4 |
G |
A |
4: 139,136,200 (GRCm39) |
E942K |
possibly damaging |
Het |
Unc5b |
G |
A |
10: 60,614,580 (GRCm39) |
A239V |
probably damaging |
Het |
Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,566,877 (GRCm39) |
E463G |
possibly damaging |
Het |
|
Other mutations in Tmem200a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:Tmem200a
|
APN |
10 |
25,870,041 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02323:Tmem200a
|
APN |
10 |
25,869,328 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02702:Tmem200a
|
APN |
10 |
25,869,501 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03221:Tmem200a
|
APN |
10 |
25,869,922 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0467:Tmem200a
|
UTSW |
10 |
25,870,002 (GRCm39) |
missense |
probably benign |
0.09 |
R1169:Tmem200a
|
UTSW |
10 |
25,870,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Tmem200a
|
UTSW |
10 |
25,954,518 (GRCm39) |
unclassified |
probably benign |
|
R1555:Tmem200a
|
UTSW |
10 |
25,869,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:Tmem200a
|
UTSW |
10 |
25,868,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R1693:Tmem200a
|
UTSW |
10 |
25,869,877 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1786:Tmem200a
|
UTSW |
10 |
25,869,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Tmem200a
|
UTSW |
10 |
25,869,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Tmem200a
|
UTSW |
10 |
25,869,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R2260:Tmem200a
|
UTSW |
10 |
25,869,313 (GRCm39) |
missense |
probably benign |
|
R3793:Tmem200a
|
UTSW |
10 |
25,870,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5062:Tmem200a
|
UTSW |
10 |
25,869,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R5178:Tmem200a
|
UTSW |
10 |
25,870,277 (GRCm39) |
missense |
probably benign |
0.02 |
R5195:Tmem200a
|
UTSW |
10 |
25,954,854 (GRCm39) |
unclassified |
probably benign |
|
R5208:Tmem200a
|
UTSW |
10 |
25,870,051 (GRCm39) |
missense |
probably benign |
0.00 |
R6045:Tmem200a
|
UTSW |
10 |
25,868,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R6552:Tmem200a
|
UTSW |
10 |
25,869,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R7797:Tmem200a
|
UTSW |
10 |
25,869,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7961:Tmem200a
|
UTSW |
10 |
25,869,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7989:Tmem200a
|
UTSW |
10 |
25,869,955 (GRCm39) |
missense |
probably benign |
|
R8009:Tmem200a
|
UTSW |
10 |
25,869,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8074:Tmem200a
|
UTSW |
10 |
25,868,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9254:Tmem200a
|
UTSW |
10 |
25,869,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R9358:Tmem200a
|
UTSW |
10 |
25,869,677 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCACAGAGGACTTGTATTGAC -3'
(R):5'- TGATGTTGACTGAAAGTAAGAGCC -3'
Sequencing Primer
(F):5'- CTTGTATTGACTAGATAGGGACTCCC -3'
(R):5'- TTGACTGAAAGTAAGAGCCTGGGG -3'
|
Posted On |
2018-04-02 |